LCATD
MCID: LCT022
MIFTS: 60

Lecithin:cholesterol Acyltransferase Deficiency (LCATD)

Categories: Blood diseases, Endocrine diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Lecithin:cholesterol Acyltransferase Deficiency

MalaCards integrated aliases for Lecithin:cholesterol Acyltransferase Deficiency:

Name: Lecithin:cholesterol Acyltransferase Deficiency 57 11 42 73
Norum Disease 57 11 19 42 58 75 73 28 12 5 14
Lcat Deficiency 57 42 58 75 28 53 5
Familial Lcat Deficiency 19 42 58 73
Fld 19 42 58 73
Lecithin Cholesterol Acyltransferase Deficiency 75 53 43
Lecithin Acyltransferase Deficiency 11 42 71
Complete Lcat Deficiency 19 42 58
Lecithin-Cholesterol Acyltransferase Deficiency 58 73
Familial Lecithin-Cholesterol Acyltransferase Deficiency 42
Deficiency, Lecithin:cholesterol Acyltransferase 38
Lecithin-Cholesterol Acyltransferase 75
Norum's Disease 42
Lcatd 73

Characteristics:


Inheritance:

Lecithin:cholesterol Acyltransferase Deficiency: Autosomal recessive 57
Lcat Deficiency: Autosomal recessive 58
Familial Lcat Deficiency: Autosomal recessive 58

Prevelance:

Lcat Deficiency: <1/1000000 (Worldwide) 58
Familial Lcat Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

Lcat Deficiency: All ages 58
Familial Lcat Deficiency: All ages 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism
Rare endocrine diseases
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:1391
OMIM® 57 245900
MeSH 43 D007863
NCIt 49 C84813
SNOMED-CT 68 238091006
ICD10 31 E78.6
ICD10 via Orphanet 32 E78.6
UMLS via Orphanet 72 C0023195
MedGen 40 C0023195
UMLS 71 C0023195

Summaries for Lecithin:cholesterol Acyltransferase Deficiency

MedlinePlus Genetics: 42 Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.In complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead to severely impaired vision.People with complete LCAT deficiency often have kidney disease that begins in adolescence or early adulthood. The kidney problems get worse over time and may eventually lead to kidney failure. Individuals with this disorder also usually have a condition known as hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Anemia can cause pale skin, weakness, fatigue, and more serious complications.Other features of complete LCAT deficiency that occur in some affected individuals include enlargement of the liver (hepatomegaly), spleen (splenomegaly), or lymph nodes (lymphadenopathy) or an accumulation of fatty deposits on the artery walls (atherosclerosis).

MalaCards based summary: Lecithin:cholesterol Acyltransferase Deficiency, also known as norum disease, is related to fish-eye disease and fatty liver disease. An important gene associated with Lecithin:cholesterol Acyltransferase Deficiency is LCAT (Lecithin-Cholesterol Acyltransferase), and among its related pathways/superpathways are Metabolism and Olfactory Signaling Pathway. The drugs Racepinephrine and Hydrocortisone succinate have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and spleen, and related phenotypes are hypertriglyceridemia and decreased hdl cholesterol concentration

Orphanet 58 Lcat deficiency: LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.

Familial lcat deficiency: Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.

UniProtKB/Swiss-Prot: 73 A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

GARD: 19 Familial LCAT deficiency is a genetic disorder that affects the body's ability to process (metabolize) cholesterol. It is characterized by cloudiness of the clear front surface of the eye (corneal opacities), a shortage of red blood cells (hemolytic anemia), and kidney failure. Familial LCAT deficiency is one of two types of LCAT deficiency; the other type of LCAT deficiency is fish-eye disease. Both types of LCAT deficiency are caused by genetic changes in the LCAT gene and are inherited in an autosomal recessive manner.

OMIM®: 57 Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. (245900) (Updated 08-Dec-2022)

Wikipedia 75 Lcat deficiency: Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism. The disease has... more...

Lecithin-cholesterol acyltransferase: Lecithin-cholesterol acyltransferase (LCAT, also called phosphatidylcholine-sterol O-acyltransferase) is... more...

Related Diseases for Lecithin:cholesterol Acyltransferase Deficiency

Diseases related to Lecithin:cholesterol Acyltransferase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 236)
# Related Disease Score Top Affiliating Genes
1 fish-eye disease 32.1 SLC12A4 LCAT APOA2 APOA1
2 fatty liver disease 30.9 LPL APOE APOB APOA1
3 non-alcoholic fatty liver disease 30.7 LPL CETP APOB APOA1
4 sea-blue histiocyte disease 30.5 LCAT APOE
5 serum amyloid a amyloidosis 30.0 LCAT APOA1
6 arteriosclerosis 29.9 LPA APOE APOB APOA1
7 type 1 diabetes mellitus 29.8 LPL APOE APOB APOA1
8 hyperlipoproteinemia, type i 29.7 LPL APOE APOB APOA1
9 hypoalphalipoproteinemia, primary, 2 29.5 LPA LCAT CETP APOB APOA2 APOA1
10 amyloidosis 29.5 LPA APOE APOA2 APOA1
11 familial lipoprotein lipase deficiency 29.4 LPL APOE APOB APOA1
12 arcus corneae 29.1 UBIAD1 LPA LCAT APOE APOB APOA1
13 kidney disease 29.1 LPA LCAT CETP APOE APOB APOA1
14 aortic atherosclerosis 29.0 LPL CETP APOE APOB APOA2 APOA1
15 hypoalphalipoproteinemia 28.9 LPL LCAT CETP APOB APOA2 APOA1
16 hyperalphalipoproteinemia 1 28.9 LPL LCAT CETP APOE APOB APOA2
17 hypolipoproteinemia 28.9 LPL LPA LCAT CETP APOE APOB
18 chronic kidney disease 28.9 LPL LPA LCAT CETP APOB APOA1
19 hypertriglyceridemia 1 28.9 LPL CETP APOE APOB APOA2 APOA1
20 abetalipoproteinemia 28.8 LPL LCAT CETP APOE APOB APOA1
21 hypothyroidism 28.8 LPL LPA CETP APOE APOB APOA1
22 familial hypercholesterolemia 28.6 LPL LPA LCAT CETP APOE APOB
23 heart disease 28.6 LPL LPA CETP APOE APOB APOA2
24 nephrotic syndrome 28.5 LPL LPA LCAT CETP APOE APOB
25 hypercholesterolemia, familial, 1 28.5 LPL LPA LCAT CETP APOE APOB
26 hypobetalipoproteinemia, familial, 1 28.4 LPL LPA LCAT CETP APOE APOB
27 hypoalphalipoproteinemia, primary, 1 28.3 LPL LPA LCAT CETP APOE APOB
28 atherosclerosis susceptibility 28.3 LPL LPA LCAT CETP APOE APOB
29 coronary heart disease 1 28.3 LPL LPA LCAT CETP APOE APOB
30 body mass index quantitative trait locus 11 28.3 LPL LPA LCAT CETP APOE APOB
31 hyperlipoproteinemia, type iii 28.3 LPL LPA CETP APOE APOB APOA1
32 diabetes mellitus 28.2 LPL LPA LCAT CETP APOE APOB
33 type 2 diabetes mellitus 28.2 LPL LPA LCAT CETP APOE APOB
34 familial hyperlipidemia 28.1 LPL LPA LCAT CETP APOE APOB
35 lipid metabolism disorder 28.1 LPL LPA LCAT CETP APOE APOB
36 cardiovascular system disease 28.1 LPL LPA LCAT CETP APOE APOB
37 myocardial infarction 28.1 LPL LPA LCAT CETP APOE APOB
38 vascular disease 28.0 LPL LPA CETP APOE APOB APOA2
39 tangier disease 27.8 LPL LPA LCAT CETP APOE APOB
40 fatty liver disease 1 11.0
41 fazio-londe disease 10.9
42 eye disease 10.5
43 huntington disease-like 3 10.4
44 obstructive jaundice 10.4
45 deficiency anemia 10.4
46 chronic bilirubin encephalopathy 10.3
47 abdominal obesity-metabolic syndrome 1 10.3
48 proteasome-associated autoinflammatory syndrome 1 10.3
49 huntington disease-like 1 10.3
50 sickle cell anemia 10.3

Graphical network of the top 20 diseases related to Lecithin:cholesterol Acyltransferase Deficiency:



Diseases related to Lecithin:cholesterol Acyltransferase Deficiency

Symptoms & Phenotypes for Lecithin:cholesterol Acyltransferase Deficiency

Human phenotypes related to Lecithin:cholesterol Acyltransferase Deficiency:

58 30 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002155
2 decreased hdl cholesterol concentration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003233
3 decreased circulating apolipoprotein ai concentration 30 Hallmark (90%) HP:0031799
4 corneal opacity 58 30 Frequent (33%) Frequent (79-30%)
HP:0007957
5 proteinuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0000093
6 hemolytic anemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001878
7 decreased glomerular filtration rate 58 30 Frequent (33%) Frequent (79-30%)
HP:0012213
8 visual impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000505
9 acute kidney injury 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001919
10 stage 5 chronic kidney disease 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003774
11 premature coronary artery atherosclerosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005181
12 renal insufficiency 58 30 Frequent (79-30%)
HP:0000083
13 opacification of the corneal stroma 30 HP:0007759
14 atherosclerosis 58 Frequent (79-30%)
15 foam cells 30 HP:0003651
16 decreased apolipoprotein ai level 58 Very frequent (99-80%)
17 normochromic anemia 30 HP:0001895

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Laboratory Abnormalities:
proteinuria
increased plasma triglycerides
decreased plasma esterified cholesterol
decreased apoa-i and apoa-ii
decreased plasma hdl (<1/10 of normal levels)
more
Genitourinary Kidneys:
renal failure

Hematology:
hemolytic anemia
normochromic anemia

Head And Neck Eyes:
corneal opacities
corneal lipid deposits

Clinical features from OMIM®:

245900 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased free cholesterol GR00340-A-2 9.1 APOA1 APOB APOE CETP LPA LPL
2 Increased LDL uptake GR00340-A-1 8.96 APOA1 APOE

MGI Mouse Phenotypes related to Lecithin:cholesterol Acyltransferase Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.1 APOA1 APOB APOE LCAT LPL SLC12A4

Drugs & Therapeutics for Lecithin:cholesterol Acyltransferase Deficiency

Drugs for Lecithin:cholesterol Acyltransferase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved, Vet_approved Phase 3 51-43-4, 329-65-7 838 5816
2
Hydrocortisone succinate Approved Phase 3 2203-97-6 3643
3
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
4
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 3640 5754
5
Tetracosactide Approved Phase 3 16960-16-0 16133802 16129617
6 Epinephryl borate Phase 3
7 Hormones Phase 3
8 Hormone Antagonists Phase 3
9 Hydrocortisone 17-butyrate 21-propionate Phase 3
10
Adenosine Approved, Investigational 58-61-7 60961
11
Lecithin Approved, Experimental, Investigational, Nutraceutical 8002-43-5, 1446756-47-3, 18656-38-7 26197 9547096 6323481
12 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Is Adrenal Insufficiency Under-diagnosed in Hospitalized Cirrhosis Patients? Completed NCT03368066 Phase 3 Cosyntropin
2 Analysis of Samples Collected From a Subject Who Received ACP- 501 (Human Recombinant Lecithin:Cholesterol Acyltransferase [rhLCAT]) Completed NCT04737720
3 A Validation Study Evaluating the Use of 3H-Cholesterol Bound to Albumin as a Method to Assess Reverse Cholesterol Transport in Subjects With Monogenic Diseases Affecting HDL Metabolism Suspended NCT01782027 3H-cholesterol bound to albumin

Search NIH Clinical Center for Lecithin:cholesterol Acyltransferase Deficiency

Cochrane evidence based reviews: lecithin cholesterol acyltransferase deficiency

Genetic Tests for Lecithin:cholesterol Acyltransferase Deficiency

Genetic tests related to Lecithin:cholesterol Acyltransferase Deficiency:

# Genetic test Affiliating Genes
1 Lcat Deficiency 28
2 Norum Disease 28 LCAT

Anatomical Context for Lecithin:cholesterol Acyltransferase Deficiency

Organs/tissues related to Lecithin:cholesterol Acyltransferase Deficiency:

MalaCards : Eye, Kidney, Spleen, Liver, Skin, Bone Marrow, Bone

Publications for Lecithin:cholesterol Acyltransferase Deficiency

Articles related to Lecithin:cholesterol Acyltransferase Deficiency:

(show top 50) (show all 497)
# Title Authors PMID Year
1
Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency. 53 62 57 5
1681161 1991
2
Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele. 62 57 5
2370048 1990
3
A new case of familial LCAT deficiency. 62 57 5
6624548 1983
4
Familial serum-cholesterol esterification failure. A new inborn error of metabolism. 57 5
6078131 1967
5
Molecular characterization of two patients with severe LCAT deficiency. 53 62 5
17526537 2007
6
Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea. 53 62 5
9261271 1997
7
Targeted disruption of the mouse lecithin:cholesterol acyltransferase (LCAT) gene. Generation of a new animal model for human LCAT deficiency. 53 62 57
9054454 1997
8
Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease. 53 62 57
8282802 1994
9
Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease. 53 62 5
8432868 1993
10
The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. 53 62 5
1516702 1992
11
Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease. 53 62 5
1662503 1991
12
Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene. 53 62 5
1859405 1991
13
Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia. 62 5
31164121 2019
14
Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers. 62 5
28983876 2018
15
Very low levels of HDL cholesterol and atherosclerosis, a variable relationship--a review of LCAT deficiency. 62 5
22701329 2012
16
Familial Lecithin:cholesterol acyltransferase deficiency with renal failure in two siblings. First case report from India. 62 57
9884427 1999
17
Disruption of the murine lecithin:cholesterol acyltransferase gene causes impairment of adrenal lipid delivery and up-regulation of scavenger receptor class B type I. 62 57
9188474 1997
18
Hereditary lecithin-cholesterol acyltransferase deficiency. Case report of a German patient. 62 57
3661502 1987
19
Decreased sodium influx and abnormal red cell membrane lipids in a patient with familial plasma lecithin: cholesterol acyltransferase deficiency. 62 57
6695915 1984
20
Renal failure in familial lecithin: cholesterol acyltransferase deficiency. 62 57
7156322 1982
21
Familial plasma lecithin: cholesterol acyltransferase deficiency. A new family with partial LCAT activity. 62 57
7148518 1982
22
Familial lecithin-cholesterol acyltransferase deficiency in a Japanese family: evidence for functionally defective enzyme in homozygotes and obligate heterozygotes. 62 57
7152525 1982
23
Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency. 62 57
6805319 1982
24
Genetic control of lecithin-cholesterol acyltransferase (LCAT): measurement of LCAT mass in a large kindred with LCAT deficiency. 62 57
7294021 1981
25
Lecithin-cholesterol-acyltransferase deficiency: autosomal recessive transmission in a large kindred. 62 57
7296936 1981
26
Familial lecithin:cholesterol acyltransferase deficiency. Report of a fourth family from northwestern Norway. 62 57
7293825 1981
27
Genetic heterogeneity in familial lecithin:cholesterol acyltransferase (LCAT) deficiency. 62 57
7027744 1981
28
Familial lecithin-cholesterol acyltransferase: identification of heterozygotes with half-normal enzyme activity and mass. 62 57
7327552 1981
29
Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency. 62 57
806250 1975
30
Familial plasma lecithin: cholesterol acyltransferase deficiency. A study of the platelets. 62 57
5581187 1971
31
High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations. 5
21901787 2011
32
Overexpression of lecithin:cholesterol acyltransferase in transgenic rabbits prevents diet-induced atherosclerosis. 57
8876155 1996
33
Renal transplantation in patients with familial lecithin: cholesterol-acetyltransferase deficiency. 57
408950 1977
34
Probable linkage of LCAT locus in man to the alpha haptoglobin locus on chromosome 16. 57
4834078 1974
35
Lecithin: cholesterol acyltransferase recent research on biochemistry and physiology of the enzyme. 57
4604673 1974
36
Familial plasma cholesterol ester deficiency. A study of the erythrocytes. 57
5704704 1968
37
Familial serum cholesterol ester deficiency. Clinical study of a patient with a new syndrome. 57
5669813 1968
38
Characterization of a new LCAT mutation causing familial LCAT deficiency (FLD) and the role of APOE as a modifier gene of the FLD phenotype. 53 62
19515369 2009
39
Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation. 53 62
19592052 2009
40
Two novel frame shift mutations in lecithin:cholesterol acyltransferase (LCAT) gene associated with a familial LCAT deficiency phenotype. 53 62
19329119 2009
41
In vivo imaging of the cornea in a patient with lecithin-cholesterol acyltransferase deficiency. 53 62
19724202 2009
42
Functional lecithin: cholesterol acyltransferase is not required for efficient atheroprotection in humans. 53 62
19687369 2009
43
Changes in lipoprotein profile and urinary albumin excretion in familial LCAT deficiency with lipid lowering therapy. 53 62
19230892 2009
44
Lecithin: cholesterol acyltransferase expression has minimal effects on macrophage reverse cholesterol transport in vivo. 53 62
19564558 2009
45
Lecithin: cholesterol acyltransferase--from biochemistry to role in cardiovascular disease. 53 62
19306528 2009
46
Therapeutic management of a new case of LCAT deficiency with a multifactorial long-term approach based on high doses of angiotensin II receptor blockers (ARBs). 53 62
18397721 2008
47
The role of lecithin cholesterol acyltransferase and organic substances from coal in the etiology of Balkan endemic nephropathy: a new hypothesis. 53 62
18063285 2008
48
Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency. 53 62
17452402 2007
49
[Familial lecithin-cholesterol acyltransferase (LCAT) deficiency]. 53 62
17824097 2007
50
Functional LCAT deficiency in human apolipoprotein A-I transgenic, SR-BI knockout mice. 53 62
17272829 2007

Variations for Lecithin:cholesterol Acyltransferase Deficiency

ClinVar genetic disease variations for Lecithin:cholesterol Acyltransferase Deficiency:

5 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LCAT NM_000229.2(LCAT):c.508T>C (p.Trp170Arg) SNV Pathogenic
3656 rs267607211 GRCh37: 16:67976589-67976589
GRCh38: 16:67942686-67942686
2 LCAT NM_000229.2(LCAT):c.951G>A (p.Met317Ile) SNV Pathogenic
3657 rs121908048 GRCh37: 16:67974179-67974179
GRCh38: 16:67940276-67940276
3 LCAT NM_000229.2(LCAT):c.756C>A (p.Asn252Lys) SNV Pathogenic
3659 rs121908049 GRCh37: 16:67974374-67974374
GRCh38: 16:67940471-67940471
4 LCAT NM_000229.2(LCAT):c.827T>A (p.Met276Lys) SNV Pathogenic
3665 rs121908054 GRCh37: 16:67974303-67974303
GRCh38: 16:67940400-67940400
5 LCAT NM_000229.2(LCAT):c.698T>C (p.Leu233Pro) SNV Pathogenic
3666 rs28942087 GRCh37: 16:67976316-67976316
GRCh38: 16:67942413-67942413
6 LCAT NM_000229.2(LCAT):c.475C>T (p.Arg159Trp) SNV Pathogenic
3668 rs28940887 GRCh37: 16:67976622-67976622
GRCh38: 16:67942719-67942719
7 LCAT NM_000229.2(LCAT):c.1197dup (p.Gln400fs) DUP Pathogenic
3669 rs794726663 GRCh37: 16:67973932-67973933
GRCh38: 16:67940029-67940030
8 LCAT NM_000229.2(LCAT):c.1034C>T (p.Thr345Met) SNV Pathogenic
3670 rs28940888 GRCh37: 16:67974096-67974096
GRCh38: 16:67940193-67940193
9 LCAT NM_000229.2(LCAT):c.321C>A (p.Tyr107Ter) SNV Pathogenic
3671 rs121908055 GRCh37: 16:67976870-67976870
GRCh38: 16:67942967-67942967
10 LCAT NM_000229.2(LCAT):c.997G>A (p.Val333Met) SNV Pathogenic
626357 rs776035233 GRCh37: 16:67974133-67974133
GRCh38: 16:67940230-67940230
11 LCAT NM_000229.2(LCAT):c.1210A>G (p.Met404Val) SNV Pathogenic
626358 rs779114194 GRCh37: 16:67973920-67973920
GRCh38: 16:67940017-67940017
12 LCAT, SLC12A4 NM_000229.2(LCAT):c.101dup (p.His35fs) DUP Pathogenic
3661 GRCh37: 16:67977903-67977904
GRCh38: 16:67944000-67944001
13 LCAT NM_000229.2(LCAT):c.349G>A (p.Ala117Thr) SNV Pathogenic
3667 rs28940886 GRCh37: 16:67976842-67976842
GRCh38: 16:67942939-67942939
14 LCAT NM_000229.2(LCAT):c.491_493dup (p.Arg164_Ala165insGly) DUP Pathogenic
3658 rs794726662 GRCh37: 16:67976603-67976604
GRCh38: 16:67942700-67942701
15 LCAT NM_000229.2(LCAT):c.802C>T (p.Arg268Cys) SNV Likely Pathogenic
1338728 GRCh37: 16:67974328-67974328
GRCh38: 16:67940425-67940425
16 LCAT NM_000229.2(LCAT):c.367C>T (p.Arg123Cys) SNV Likely Pathogenic
632262 rs140068549 GRCh37: 16:67976824-67976824
GRCh38: 16:67942921-67942921
17 LCAT NM_000229.2(LCAT):c.1113G>A (p.Thr371=) SNV Uncertain Significance
887806 rs368689576 GRCh37: 16:67974017-67974017
GRCh38: 16:67940114-67940114
18 LCAT NM_000229.2(LCAT):c.618C>T (p.Leu206=) SNV Uncertain Significance
884654 rs372699306 GRCh37: 16:67976396-67976396
GRCh38: 16:67942493-67942493
19 LCAT NM_000229.2(LCAT):c.597C>T (p.Val199=) SNV Uncertain Significance
884655 rs5922 GRCh37: 16:67976417-67976417
GRCh38: 16:67942514-67942514
20 LCAT NM_000229.2(LCAT):c.552C>T (p.Leu184=) SNV Uncertain Significance
884656 rs773303978 GRCh37: 16:67976462-67976462
GRCh38: 16:67942559-67942559
21 LCAT NM_000229.2(LCAT):c.495C>T (p.Ala165=) SNV Uncertain Significance
884657 rs139146229 GRCh37: 16:67976602-67976602
GRCh38: 16:67942699-67942699
22 LCAT NM_000229.2(LCAT):c.382G>A (p.Gly128Ser) SNV Uncertain Significance
885596 rs199560940 GRCh37: 16:67976809-67976809
GRCh38: 16:67942906-67942906
23 LCAT NM_000229.2(LCAT):c.861C>T (p.His287=) SNV Uncertain Significance
884652 rs767628388 GRCh37: 16:67974269-67974269
GRCh38: 16:67940366-67940366
24 LCAT NM_000229.2(LCAT):c.159C>T (p.Pro53=) SNV Uncertain Significance
320201 rs556480808 GRCh37: 16:67977111-67977111
GRCh38: 16:67943208-67943208
25 LCAT NM_000229.2(LCAT):c.981A>C (p.Gly327=) SNV Uncertain Significance
320198 rs139453193 GRCh37: 16:67974149-67974149
GRCh38: 16:67940246-67940246
26 LCAT NM_000229.2(LCAT):c.481G>A (p.Glu161Lys) SNV Uncertain Significance
885592 rs768148804 GRCh37: 16:67976616-67976616
GRCh38: 16:67942713-67942713
27 LCAT NM_000229.2(LCAT):c.475C>A (p.Arg159=) SNV Uncertain Significance
885593 rs28940887 GRCh37: 16:67976622-67976622
GRCh38: 16:67942719-67942719
28 LCAT NM_000229.2(LCAT):c.465T>C (p.Asn155=) SNV Uncertain Significance
885594 rs2058298885 GRCh37: 16:67976632-67976632
GRCh38: 16:67942729-67942729
29 LCAT NM_000229.2(LCAT):c.428-4A>G SNV Uncertain Significance
885595 rs202035096 GRCh37: 16:67976673-67976673
GRCh38: 16:67942770-67942770
30 LCAT NM_000229.2(LCAT):c.1173G>A (p.Val391=) SNV Uncertain Significance
887804 rs775419267 GRCh37: 16:67973957-67973957
GRCh38: 16:67940054-67940054
31 LCAT NM_000229.2(LCAT):c.1118C>T (p.Ala373Val) SNV Uncertain Significance
887805 rs756113909 GRCh37: 16:67974012-67974012
GRCh38: 16:67940109-67940109
32 LCAT NM_000229.2(LCAT):c.1083G>A (p.Val361=) SNV Uncertain Significance
887807 rs2058284506 GRCh37: 16:67974047-67974047
GRCh38: 16:67940144-67940144
33 LCAT NM_000229.2(LCAT):c.534G>T (p.Glu178Asp) SNV Uncertain Significance
320200 rs886052220 GRCh37: 16:67976480-67976480
GRCh38: 16:67942577-67942577
34 LCAT NM_000229.2(LCAT):c.1039C>T (p.Arg347Cys) SNV Uncertain Significance
320197 rs202017590 GRCh37: 16:67974091-67974091
GRCh38: 16:67940188-67940188
35 LCAT NM_000229.2(LCAT):c.*12T>C SNV Uncertain Significance
320195 rs886052219 GRCh37: 16:67973795-67973795
GRCh38: 16:67939892-67939892
36 LCAT NM_000229.2(LCAT):c.748+13C>G SNV Uncertain Significance
320199 rs750086555 GRCh37: 16:67976253-67976253
GRCh38: 16:67942350-67942350
37 LCAT NM_000229.2(LCAT):c.694T>A (p.Ser232Thr) SNV Likely Benign
884653 rs4986970 GRCh37: 16:67976320-67976320
GRCh38: 16:67942417-67942417
38 LCAT NM_000229.2(LCAT):c.1177C>T (p.Leu393=) SNV Benign
Benign
320196 rs5923 GRCh37: 16:67973953-67973953
GRCh38: 16:67940050-67940050
39 LCAT NM_000229.2(LCAT):c.340G>A (p.Val114Met) SNV Benign
885597 rs35673026 GRCh37: 16:67976851-67976851
GRCh38: 16:67942948-67942948

UniProtKB/Swiss-Prot genetic disease variations for Lecithin:cholesterol Acyltransferase Deficiency:

73 (show all 22)
# Symbol AA change Variation ID SNP ID
1 LCAT p.Gly54Ser VAR_004253 rs1461145750
2 LCAT p.Gly57Arg VAR_004254
3 LCAT p.Ala117Thr VAR_004255 rs28940886
4 LCAT p.Arg159Trp VAR_004257 rs28940887
5 LCAT p.Arg164His VAR_004258 rs769485083
6 LCAT p.Arg171Trp VAR_004259
7 LCAT p.Tyr180Asn VAR_004260 rs749740660
8 LCAT p.Leu233Pro VAR_004262 rs28942087
9 LCAT p.Asn252Lys VAR_004263 rs121908049
10 LCAT p.Met317Ile VAR_004265 rs121908048
11 LCAT p.Thr345Met VAR_004266 rs28940888
12 LCAT p.Asn29Ile VAR_039020
13 LCAT p.Thr37Met VAR_039022 rs971887742
14 LCAT p.Arg164Cys VAR_039028 rs1380009545
15 LCAT p.Ser205Asn VAR_039030
16 LCAT p.Lys242Asn VAR_039031
17 LCAT p.Arg268His VAR_039032 rs780824776
18 LCAT p.Thr298Ala VAR_039033
19 LCAT p.Thr298Ile VAR_039034
20 LCAT p.Pro331Ser VAR_039035
21 LCAT p.Val333Met VAR_039036 rs776035233
22 LCAT p.Phe406Val VAR_039038

Expression for Lecithin:cholesterol Acyltransferase Deficiency

Search GEO for disease gene expression data for Lecithin:cholesterol Acyltransferase Deficiency.

Pathways for Lecithin:cholesterol Acyltransferase Deficiency

Pathways related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.47 UBIAD1 LPL APOE APOB APOA2 APOA1
2
Show member pathways
13.06 LPL APOE APOB APOA2 APOA1
3
Show member pathways
13.04 SLC12A4 LPL LPA LCAT CETP APOE
4
Show member pathways
12.51 UBIAD1 LPL APOE APOB APOA2 APOA1
5
Show member pathways
12.34 APOA1 APOA2 APOB APOE LPL UBIAD1
6
Show member pathways
12.23 LPL APOA2 APOA1
7
Show member pathways
12.07 APOE APOB APOA2 APOA1
8
Show member pathways
12.03 LPL LPA LCAT CETP APOE APOB
9
Show member pathways
11.59 APOE APOB APOA1
10
Show member pathways
11.55 LPL APOA2 APOA1
11
Show member pathways
11.48 LPL LCAT CETP APOB APOA2 APOA1
12
Show member pathways
11.16 LPL APOA1
13
Show member pathways
11.05 LPL LCAT CETP APOE APOB APOA2
14 10.91 APOA2 APOA1
15 10.76 APOA2 APOA1

GO Terms for Lecithin:cholesterol Acyltransferase Deficiency

Cellular components related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.31 LPL LPA LCAT CETP APOE APOB
2 extracellular space GO:0005615 10.2 APOA1 APOA2 APOB APOE CETP LCAT
3 endoplasmic reticulum lumen GO:0005788 10.08 APOE APOB APOA2 APOA1
4 early endosome GO:0005769 10.06 APOE APOB APOA2 APOA1
5 blood microparticle GO:0072562 9.99 APOE APOA2 APOA1
6 very-low-density lipoprotein particle GO:0034361 9.85 APOA1 APOA2 APOB APOE LPL
7 low-density lipoprotein particle GO:0034362 9.8 APOE APOB
8 spherical high-density lipoprotein particle GO:0034366 9.73 APOA1 APOA2
9 endocytic vesicle lumen GO:0071682 9.73 APOE APOB APOA1
10 intermediate-density lipoprotein particle GO:0034363 9.67 APOE APOB
11 chylomicron GO:0042627 9.65 LPL APOE APOB APOA2 APOA1
12 high-density lipoprotein particle GO:0034364 9.4 LCAT CETP APOE APOB APOA2 APOA1

Biological processes related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 cholesterol metabolic process GO:0008203 10.21 LCAT CETP APOE APOB APOA2 APOA1
2 lipid metabolic process GO:0006629 10.2 LPL LPA LCAT CETP APOE APOB
3 intermembrane lipid transfer GO:0120009 10.18 APOA1 APOA2 APOB APOE CETP
4 triglyceride metabolic process GO:0006641 10.16 LPL CETP APOE APOA2
5 triglyceride homeostasis GO:0070328 10.14 APOA1 APOE CETP LPL
6 cholesterol efflux GO:0033344 10.13 APOE APOB APOA2 APOA1
7 low-density lipoprotein particle remodeling GO:0034374 10.1 CETP APOE APOB APOA2
8 phosphatidylcholine biosynthetic process GO:0006656 10.08 LCAT APOA2 APOA1
9 phosphatidylcholine metabolic process GO:0046470 10.08 LCAT CETP APOA1
10 high-density lipoprotein particle assembly GO:0034380 10.07 APOE APOA2 APOA1
11 cholesterol transport GO:0030301 10.07 LCAT CETP APOB APOA2 APOA1
12 phospholipid efflux GO:0033700 10.06 APOE APOA2 APOA1
13 lipid transport GO:0006869 10.06 LPA CETP APOE APOB APOA2 APOA1
14 positive regulation of CoA-transferase activity GO:1905920 10.05 APOA1 APOA2 APOE
15 phospholipid metabolic process GO:0006644 10.04 LPL LCAT APOA1
16 high-density lipoprotein particle clearance GO:0034384 10.04 APOE APOA2 APOA1
17 lipoprotein biosynthetic process GO:0042158 10.01 APOA1 APOB APOE LCAT
18 positive regulation of cholesterol efflux GO:0010875 9.98 APOE APOA1
19 artery morphogenesis GO:0048844 9.98 APOE APOB
20 positive regulation of lipid biosynthetic process GO:0046889 9.98 APOE APOA1
21 triglyceride catabolic process GO:0019433 9.97 LPL APOB
22 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.97 LPL APOB
23 phospholipid homeostasis GO:0055091 9.97 CETP APOA1
24 positive regulation of lipid storage GO:0010884 9.96 LPL APOB
25 regulation of Cdc42 protein signal transduction GO:0032489 9.96 APOE APOA1
26 positive regulation of cholesterol storage GO:0010886 9.96 APOB LPL
27 reverse cholesterol transport GO:0043691 9.96 LCAT CETP APOE APOA2 APOA1
28 peptidyl-methionine modification GO:0018206 9.95 APOA2 APOA1
29 negative regulation of cytokine production involved in immune response GO:0002719 9.94 APOA2 APOA1
30 positive regulation of cholesterol metabolic process GO:0090205 9.94 APOE APOA1
31 lipoprotein catabolic process GO:0042159 9.93 APOE APOB
32 regulation of intestinal cholesterol absorption GO:0030300 9.93 APOA2 APOA1
33 protein oxidation GO:0018158 9.92 APOA2 APOA1
34 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.92 APOA1 APOA2
35 positive regulation of phospholipid efflux GO:1902995 9.91 APOA1 APOE
36 steroid metabolic process GO:0008202 9.91 LCAT CETP APOE APOB APOA1
37 lipoprotein metabolic process GO:0042157 9.87 LCAT APOE APOB APOA2 APOA1
38 high-density lipoprotein particle remodeling GO:0034375 9.85 APOA1 APOA2 APOE CETP LCAT
39 cholesterol homeostasis GO:0042632 9.8 LPL LCAT CETP APOE APOB APOA2
40 very-low-density lipoprotein particle remodeling GO:0034372 9.32 LPL LCAT CETP APOE APOA1

Molecular functions related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 10.16 APOA1 APOA2 APOE LPA LPL
2 heparin binding GO:0008201 10.08 LPL LPA APOE APOB
3 lipid binding GO:0008289 10.07 APOA1 APOA2 APOE CETP
4 cholesterol binding GO:0015485 9.97 CETP APOA2 APOA1
5 phospholipid binding GO:0005543 9.92 APOE APOB APOA2 APOA1
6 low-density lipoprotein particle receptor binding GO:0050750 9.88 APOE APOB
7 antioxidant activity GO:0016209 9.87 UBIAD1 APOE
8 heparan sulfate proteoglycan binding GO:0043395 9.86 LPL APOE
9 apolipoprotein binding GO:0034185 9.85 LPL LPA
10 phosphatidylcholine binding GO:0031210 9.85 CETP APOA2 APOA1
11 high-density lipoprotein particle binding GO:0008035 9.84 APOA2 APOA1
12 triglyceride binding GO:0017129 9.81 LPL CETP
13 high-density lipoprotein particle receptor binding GO:0070653 9.73 APOA2 APOA1
14 apolipoprotein receptor binding GO:0034190 9.71 APOA2 APOA1
15 lipoprotein particle binding GO:0071813 9.65 APOA1 APOE LPL
16 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.63 APOE APOA2 APOA1
17 lipid transporter activity GO:0005319 9.43 APOE APOB APOA2 APOA1
18 cholesterol transfer activity GO:0120020 9.32 CETP APOE APOB APOA2 APOA1

Sources for Lecithin:cholesterol Acyltransferase Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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